Canonical Allele Identifier: CA412574622

Gene: PHEX

Linked Data

• MyVariant Identifiers: chrX:g.22151681C>A (hg19) ; chrX:g.22133564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133564C>A , CM000685.2:g.22133564C>A	GRCh38
NC_000023.10:g.22151681C>A , CM000685.1:g.22151681C>A	GRCh37
NC_000023.9:g.22061602C>A	NCBI36
NG_007563.2:g.105761C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1018C>A
ENST00000379374.5:c.1344C>A MANE Select	ENSP00000368682.4:p.Asp448Glu
ENST00000379374.4:c.1344C>A	ENSP00000368682.4:p.Asp448Glu
NM_000444.5:c.1344C>A	NP_000435.3:p.Asp448Glu
NM_001282754.1:c.1344C>A	NP_001269683.1:p.Asp448Glu
XM_011545533.1:c.588C>A	XP_011543835.1:p.Asp196Glu
XM_011545534.1:c.588C>A	XP_011543836.1:p.Asp196Glu
XM_011545535.1:c.1344C>A	XP_011543837.1:p.Asp448Glu
XM_011545536.1:c.237C>A	XP_011543838.1:p.Asp79Glu
XM_011545536.2:c.237C>A	XP_011543838.1:p.Asp79Glu
XM_017029579.1:c.588C>A	XP_016885068.1:p.Asp196Glu
XM_024452390.1:c.1053C>A	XP_024308158.1:p.Asp351Glu
XR_001755695.1:n.2023C>A
NM_000444.6:c.1344C>A MANE Select	NP_000435.3:p.Asp448Glu
NM_001282754.2:c.1344C>A	NP_001269683.1:p.Asp448Glu